Fabry Disease: Advancing Disease Awareness and Interventions for Improved Outcomes Across the Lifespan

Our expert panel will discuss symptoms indicative of Fabry Disease across the life cycle from infancy to advanced age. Participants will benefit from expert instruction in the art of early diagnosis, review practical methods to navigate challenges, and integrate therapies into management plans to produce clinically meaningful improvements in patient outcomes.  The last 5 minutes includes a discussion between both presenters to further enhance learning. 

Highlights from ACMG: Metabolic Disorders: Strategies to Improve Management of Porphyrias + Porphyria-like Attacks

Join us for highlights from the American College of Medical Genetics and Genomics Annual Meeting!  Patients with acute porphyrias, characterized by an enzymatic defect in the heme biosynthetic pathway, often present with debilitating, life-threatening attacks.  To improve an understanding of AHP and to better differentiate from other disorders that mimic symptoms associated with AHP, a broad differential diagnosis of the main acute presentations of acute porphyrias (including abdominal pain, neuropathy, psychosis) will be reviewed, including other diseases with similar signs such as Guillain-Barre Syndrome and Multiple Sclerosis.  Disorders that do have real porphyria-like attacks as a manifestation (i.e., tyrosinemia, lead poisoning) will be addressed, with recommended strategies to personalize patient treatment. 

Highlights from PAS: Rare Disorders - Don't Miss a Treatable Disease

Highlights from the Pediatric Academic Society Annual Meeting in Toronto reviewing the reasoning behind newborn screening (NBS). Several real patient cases will be discussed where NBS identified the treatable rare disorder, as well as others that were not initially identified by NBS.  Strategies on how to better identify these potential disorders will be reviewed. 

Highlights from SIMD: Distinguishing Porphyrias from other Diseases with Porphyria-like Attacks

Acute hepatic porphyrias (AHP) symptoms often resemble other diseases in the gastrointestinal, gynecological, and neurological areas and are characterized by intensely painful attacks that can be life-threatening if incorrectly diagnosed. When correctly diagnosed, treatment may vary among clinicians who manage patients with these disorders. To close these practice gaps, join us for hightlights from the the Society for Inherited Metabolic Disorders Annual Meeting as our faculty of AHP experts discuss treatment strategies and provide recommendations using real patient cases seen in clinical practice.

Highlights from the ASBMR: Clinical Phenotypes of ENPP1 Deficiency: GACI, ARHR2, and Beyond…

Generalized Arterial Calcification of Infancy (GACI) is a rare mineralization disorder caused by mutations in the ENPP1 or ABCC6 genes, affecting the circulatory system in addition to other body systems. Those individuals who survive into adulthood often have side effects of the disease, including Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2). Monoallelic Heterozygous ENPP1 Deficiency affects the ability to regulate calcium and phosphate levels leading to decreased inorganic pyrophosphate (PPi), and to increased calcium deposition in the vessel wall.  Another clinical phenotype of ENPP1 Deficiency includes Ossification of the Posterior Longitudinal Ligament (OPLL), which may also be associated with hypophosphatemic rickets, and other skeletal conditions.

Highlights from the 2024 ASBMR satellite symposium will be offered soon as an on-demand webinar, where experts will review clinical phenotypes of ENPP1 deficiency including GACI, ARHR2, OPPL and others by providing guidance for treatment initiation, ending with a discussion of emerging treatment options, to enhance the clinician’s confidence in managing patients with these disorders. 

Treating Primary Biliary Cholangitis (PBC): Unmet Needs and the Evolving Treatment Landscape

Primary biliary cholangitis (PBC) is an autoimmune disorder leading to progressive damage to intrahepatic bile ducts resulting in portal and periportal inflammation, cholestasis, and fibrosis and may ultimately lead to cirrhosis and portal hypertension.  Join us for an interactive discussion among 3 KOLs as they evaluate real patient cases and provide information for treating and managing patients with this disorder.